Skip to main content

Table 1 In total, 3750 panels were analyzed by the 15 different teams in GMCK-RD. In total, there were 34% (n = 1285) positive findings. Abbreviation in parenthesis refers to the sheet in Additional file 2: Table S6, where the contents of the gene panels are described in detail

From: Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Panels

Number of analyses

Solved (%)

Number of genes (from 2015 to 2019)

Metabolic including mitochondrial diseases (singleton analysis) (IEM)

849

274 (32%)

610–870

Neuromuscular and ataxia disease (singleton analysis) (NMD)

455

189 (42%)

499–622

Targeted gene panel (HPO etc.) (singleton analysis)

429

124 (29%)

Variable

Severe infantile epilepsy (trio analysis) (EP)

327

101 (31%)

138–353

Immunology (singleton analysis) including neutropenia (PID)

300

88 (29%)

26–425

OMIM morbid gene panel (trio analysis) (OMIM-morbid)

281

116 (41%)

3103–3921

Intellectual disability and malformation syndromes (singleton analysis) (ID)

304

119 (39%)

885–987

Connective tissue disease (singleton analysis) (CTD)

245

68 (28%)

101–118

Skeletal dysplasia (singleton analysis) (SKD)

212

115 (54%)

376–468

Inherited cancer (singleton analysis) (IC)

147

29 (20%)

116–154

Disorder of sex development (singleton analysis) (DSD)

68

17 (25%)

118–130

Pediatric hepatology (singleton analysis) (PEDHEP)

53

18 (34%)

58–124

Ciliopathy (singleton analysis) (CIL)

36

19 (53%)

168–195

Neurodegenerative disorders (singleton analysis) (NDD)

32

6 (19%)

81–88

Fetal hydrops (singleton analysis) (FETHYD)

12

6 (50%)

57–104